Theintz G, Alfonso Lopes L, Schorderet D, Sizonenko P C
Department of Paediatrics and Genetics, University Canton Hospital, Geneva, Switzerland.
Helv Paediatr Acta. 1989 Feb;43(4):325-31.
The growth characteristics of Russell-Silver syndrome (RSS) include dwarfism of prenatal onset, moderate retardation of bone age and normal postnatal height velocity. We describe a case of hypopituitarism in a girl with typical RSS who suffered from a severe trauma at birth. Signs of hypopituitarism appeared during childhood. Before substitutive treatment, a short course of human growth hormone (hGH) induced a moderate rise in plasma IGF-I levels which was within the range observed in other pituitary dwarfs. Under replacement therapy, catch-up growth was similar to what is observed in other growth hormone deficient children. However, bone age matured much faster than chronological age. This observation appears to be a particular feature of RSS, possibly enhanced by hGH therapy. An improvement of adult height beyond the final height usually observed in RSS children without endocrine disturbances should therefore not be expected from hGH therapy. Growth hormone deficiency and RSS do not appear to be causally related. However, in each child with RSS, a particular attention should be given to a decreased height velocity, a severely delayed bone age as well as a history of major perinatal problems. Should one of these factors be found, a careful evaluation of the hypothalamo-pituitary axis ought to be performed with, accordingly, an appropriate substitutive therapy.
罗素-西尔弗综合征（RSS）的生长特征包括产前开始的侏儒症、骨龄中度延迟和出生后身高增长速度正常。我们描述了一例典型RSS女孩患垂体功能减退症的病例，该女孩在出生时遭受了严重创伤。垂体功能减退的体征在儿童期出现。在替代治疗前，短期使用人生长激素（hGH）使血浆胰岛素样生长因子-I（IGF-I）水平适度升高，该升高幅度在其他垂体性侏儒症患者中观察到的范围内。在替代治疗下，追赶生长情况与其他生长激素缺乏儿童相似。然而，骨龄比实际年龄成熟得快得多。这一观察结果似乎是RSS的一个特殊特征，可能因hGH治疗而加剧。因此，不应期望hGH治疗能使RSS儿童的成人身高超过通常在无内分泌紊乱的RSS儿童中观察到的最终身高。生长激素缺乏与RSS似乎没有因果关系。然而，对于每一例RSS患儿，都应特别关注身高增长速度减慢、骨龄严重延迟以及围产期重大问题史。如果发现其中一个因素，就应该对下丘脑-垂体轴进行仔细评估，并相应地进行适当的替代治疗。
